TET2 c.4432A>C ;(p.K1478Q)

Variant ID: 4-106193970-A-C

NM_001127208.2(TET2):c.4432A>C;(p.K1478Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics
Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M
Publication Date: 2020-02-04

Variant appearance in text: TET2: 4432A>C; K1478Q
PubMed Link: 32019565
Variant Present in the following documents:
  • 12920_2020_668_MOESM6_ESM.xls, sheet 1
  • 12920_2020_668_MOESM5_ESM.xls, sheet 1
View BVdb publication page



SIRT1 Activation Disrupts Maintenance of Myelodysplastic Syndrome Stem and Progenitor Cells by Restoring TET2 Function.

Cell Stem Cell
Sun, Jie J; He, Xin X; Zhu, Yinghui Y; Ding, Zonghui Z; Dong, Haojie H; Feng, Yimei Y; Du, Juan J; Wang, Hanying H; Wu, Xiwei X; Zhang, Lei L; Yu, Xiaochun X; Lin, Allen A; McDonald, Tinisha T; Zhao, Dandan D; Wu, Herman H; Hua, Wei-Kai WK; Zhang, Bin B; Feng, Lifeng L; Tohyama, Kaoru K; Bhatia, Ravi R; Oberdoerffer, Philipp P; Chung, Yang Jo YJ; Aplan, Peter D PD; Boultwood, Jacqueline J; Pellagatti, Andrea A; Khaled, Samer S; Kortylewski, Marcin M; Pichiorri, Flavia F; Kuo, Ya-Huei YH; Carlesso, Nadia N; Marcucci, Guido G; Jin, Hongchuan H; Li, Ling L
Publication Date: 2018-09-06

Variant appearance in text: TET2: K1478Q
PubMed Link: 30146412
Variant Present in the following documents:
  • Main text
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: TET2: 4432A>C; Lys1478Gln
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s3.xlsx, sheet 9
  • bty518_supplementary_data_s4.xlsx, sheet 8
  • bty518_supplementary_data_s4.xlsx, sheet 9
  • bty518_supplementary_data_s3.xlsx, sheet 8
View BVdb publication page